Canonical Allele Identifier: CA359158705

Gene: MTRR

Linked Data

• MyVariant Identifiers: chr5:g.7891496A>C (hg19) ; chr5:g.7891383A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7891383A>C , CM000667.2:g.7891383A>C	GRCh38
NC_000005.9:g.7891496A>C , CM000667.1:g.7891496A>C	GRCh37
NC_000005.8:g.7944496A>C	NCBI36
NG_008856.1:g.27280A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1339A>C MANE Select	ENSP00000402510.2:p.Lys447Gln
ENST00000264668.6:c.1420A>C	ENSP00000264668.2:p.Lys474Gln
ENST00000440940.6:c.1339A>C	ENSP00000402510.2:p.Lys447Gln
ENST00000507202.1:n.15A>C
ENST00000507414.1:n.79A>C
ENST00000508101.5:n.579A>C
ENST00000510525.5:c.1275A>C
ENST00000511461.5:c.1252A>C
ENST00000512311.5:n.318A>C
ENST00000513439.5:c.*1046A>C	ENSP00000426710.1:n.*1046A>C
NM_002454.2:c.1339A>C	NP_002445.2:p.Lys447Gln
NM_024010.2:c.1420A>C	NP_076915.2:p.Lys474Gln
XM_011514043.1:c.1420A>C	XP_011512345.1:p.Lys474Gln
XM_011514044.1:c.1339A>C	XP_011512346.1:p.Lys447Gln
XR_241702.1:n.1353A>C
XR_241703.1:n.1346A>C
XR_925614.1:n.1465A>C
XR_925615.1:n.1617A>C
NM_001364440.1:c.1339A>C	NP_001351369.1:p.Lys447Gln
NM_001364441.1:c.1339A>C	NP_001351370.1:p.Lys447Gln
NM_001364442.1:c.1339A>C	NP_001351371.1:p.Lys447Gln
NM_024010.3:c.1339A>C	NP_076915.3:p.Lys447Gln
NR_134480.1:n.1462A>C
NR_134481.1:n.1387A>C
NR_134482.1:n.1322A>C
NR_157168.1:n.1392A>C
NR_157169.1:n.1252A>C
NR_157170.1:n.1418A>C
NR_157171.1:n.1275A>C
NR_157172.1:n.1189A>C
NR_157173.1:n.1429A>C
NR_157174.1:n.1430A>C
NR_157175.1:n.1584A>C
NR_157176.1:n.1747A>C
NR_157177.1:n.1427A>C
NR_157178.1:n.1455A>C
XM_024446063.1:c.1384A>C	XP_024301831.1:p.Lys462Gln
XM_024446064.1:c.1339A>C	XP_024301832.1:p.Lys447Gln
XR_001742071.1:n.1617A>C
XR_001742072.1:n.1594A>C
XR_001742074.1:n.1353A>C
XR_001742075.1:n.1505A>C
XR_001742076.1:n.1582A>C
XR_001742077.1:n.1605A>C
NM_001364440.2:c.1339A>C	NP_001351369.1:p.Lys447Gln
NM_001364441.2:c.1339A>C	NP_001351370.1:p.Lys447Gln
NM_001364442.2:c.1339A>C	NP_001351371.1:p.Lys447Gln
NM_002454.3:c.1339A>C MANE Select	NP_002445.2:p.Lys447Gln
NM_024010.4:c.1339A>C	NP_076915.3:p.Lys447Gln
NR_134480.2:n.1418A>C
NR_134481.2:n.1343A>C
NR_134482.2:n.1278A>C
NR_157168.2:n.1392A>C
NR_157169.2:n.1252A>C
NR_157170.2:n.1418A>C
NR_157171.2:n.1275A>C
NR_157172.2:n.1189A>C
NR_157173.2:n.1429A>C
NR_157174.2:n.1430A>C
NR_157175.2:n.1584A>C
NR_157176.2:n.1747A>C
NR_157177.2:n.1427A>C
NR_157178.2:n.1455A>C